G3D (p.Gly3Asp) variant of POLD1 (P28340)
G3D (p.Gly3Asp) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Colorectal cancer, susceptibility to, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- rs2038467920
- ClinGen CA406969968
- ClinVar RCV001070117
- Ensembl rs2038467920
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available